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HIES
MCID: HYP458
MIFTS: 60

Hyper Ige Syndrome (HIES)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hyper Ige Syndrome

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MalaCards integrated aliases for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 12 53
Hyper-Ige Syndrome 59 37 29 55 6
Hyperimmunoglobulin E Syndrome 53 29 6 40
Hyper-Ige Recurrent Infection Syndrome 53
Hyper Immunoglobulin E Syndrome 12
Hartnup Disease 72
Job Syndrome 72
Hyper Ige 75
Hies 53

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0080545
KEGG 37 H01968
ICD10 33 D82.4
ICD10 via Orphanet 34 D82.4
UMLS via Orphanet 73 C3887645
Orphanet 59 ORPHA331223
UMLS 72 C0018609 C3887645
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Summaries for Hyper Ige Syndrome

About this section
KEGG : 37
Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. One of the involved genes in pathogenesis of HIES is STAT3 that causes autosomal dominant type. In most sporadic and autosomal dominant cases, the HIES is part of a multisystem disorder including abnormalities of the soft tissue, skeletal, and dental systems. In contrast, those with autosomal recessive-HIES have severe molluscum contagiosum and viral infections and may develop severe neurological complications. Recently, It has been reported that mutations in DOCK8, TYK2, and PGM3 cause autosomal recessive HIES.

MalaCards based summary : Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to trench fever and cysticercosis, and has symptoms including seizures An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Miconazole and Posaconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotypes are cellular and hematopoietic system

Disease Ontology : 12 A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.

NIH Rare Diseases : 53 Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). Click on the embedded links to learn more about autosomal dominant HIES (or Job syndrome) and autosomal recessive HIES.

Wikipedia : 75 Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome... more...

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Related Diseases for Hyper Ige Syndrome

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Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1557)
# Related Disease Score Top Affiliating Genes
1 trench fever 32.1 TLR4 TLR2
2 cysticercosis 31.9 TLR4 IGHE
3 dermatitis 30.6 STAT3 IL4 IGHE IFNG
4 folliculitis 30.6 IL4 IFNG
5 variola major 30.5 TLR4 IFNG
6 suppurative lymphadenitis 30.3 STAT3 IFNG DOCK8
7 dermatitis, atopic 30.2 IL4R IL4 IGHE IFNG
8 orofacial granulomatosis 30.1 IL4 IFNG
9 bacterial infectious disease 30.1 TLR4 TLR2 IFNG
10 septic arthritis 29.9 TLR4 TLR2
11 lymphadenitis 29.9 TLR4 STAT3 IFNG
12 poliomyelitis 29.9 IL4 IFNG
13 leprosy 3 29.8 TLR2 IFNG
14 ige responsiveness, atopic 29.7 IL4R IL4 IGHE IFNG
15 autoimmune disease 29.6 STAT3 IL4 IFNG
16 schistosomiasis 29.6 IL4 IGHE IFNG
17 hepatitis c 29.6 TYK2 STAT3 IFNG
18 scleritis 29.5 IL4 IFNG
19 rhinitis 29.5 IL4R IL4 IGHE
20 colitis 29.3 TLR4 IL4 IFNG
21 gastrointestinal system disease 29.2 TLR4 STAT3 IFNG
22 acute graft versus host disease 29.2 IL4 IFNG
23 chagas disease 29.2 TLR4 TLR2 IFNG
24 brucellosis 29.2 TLR4 IL4 IFNG
25 invasive aspergillosis 29.2 TLR4 TLR2 IFNG
26 filariasis 29.1 TLR4 TLR2 IFNG
27 suppurative otitis media 29.0 TLR4 TLR2
28 measles 29.0 TLR2 IL4 IFNG
29 aspergillosis 29.0 TLR4 TLR2 IL4 IFNG
30 allergic hypersensitivity disease 28.9 IL4R IL4 IGHE IFNG
31 allergic rhinitis 28.9 IL4R IL4 IGHE IFNG
32 pulmonary tuberculosis 28.9 TLR2 IL4 IFNG
33 common variable immunodeficiency 28.9 TLR2 IL4 IFNG
34 respiratory allergy 28.9 IL4R IL4 IGHE
35 otitis media 28.8 TLR4 TLR2 IL4 IGHE
36 echinococcosis 28.8 TLR4 TLR2 IFNG
37 trypanosomiasis 28.8 TLR2 IL4 IFNG
38 allergic asthma 28.7 IL4R IL4 IGHE IFNG
39 asthma 28.7 IL4R IL4 IGHE IFNG
40 testicular disease 28.6 TLR2 IFNG
41 bacterial vaginosis 28.5 TLR4 TLR2
42 chlamydia 28.4 TLR4 TLR2 IL4 IFNG
43 leishmaniasis 28.4 TLR4 TLR2 IL4 IFNG
44 toxic shock syndrome 28.3 TLR4 TLR2 IL4 IFNG
45 periodontitis 28.3 TLR4 TLR2 IL4 IFNG
46 renal cell carcinoma, nonpapillary 28.3 IL4R IL4 IFNG
47 malaria 28.2 TLR4 TLR2 IL4 IFNG
48 bronchiolitis 28.2 TLR4 IL4R IL4 IGHE IFNG
49 inflammatory bowel disease 28.0 TLR4 TLR2 STAT3 IL4 IFNG
50 cutaneous leishmaniasis 27.9 TLR4 TLR2 IL4 IFNG

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to Hyper Ige Syndrome
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Symptoms & Phenotypes for Hyper Ige Syndrome

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UMLS symptoms related to Hyper Ige Syndrome:


seizures

MGI Mouse Phenotypes related to Hyper Ige Syndrome:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 DOCK8 IFNG IL4 IL4R STAT3 TLR2
2 hematopoietic system MP:0005397 10.11 DOCK8 IFNG IL4 IL4R PGM3 STAT3
3 immune system MP:0005387 10.09 DOCK8 IFNG IL4 IL4R PGM3 STAT3
4 digestive/alimentary MP:0005381 10.04 IFNG IL4 IL4R PGM3 STAT3 TLR2
5 endocrine/exocrine gland MP:0005379 9.95 IFNG IL4 IL4R PGM3 STAT3 TLR2
6 mortality/aging MP:0010768 9.92 IFNG IL4 IL4R PGM3 STAT3 TLR2
7 integument MP:0010771 9.88 IFNG IL4 IL4R STAT3 TLR2 TLR4
8 liver/biliary system MP:0005370 9.85 IFNG IL4 IL4R STAT3 TLR2 TLR4
9 nervous system MP:0003631 9.8 DOCK8 IFNG IL4 IL4R STAT3 TLR2
10 renal/urinary system MP:0005367 9.63 IFNG IL4 PGM3 STAT3 TLR2 TLR4
11 respiratory system MP:0005388 9.43 IFNG IL4 IL4R STAT3 TLR2 TLR4
12 skeleton MP:0005390 9.1 IFNG IL4 STAT3 TLR2 TLR4 TYK2
Sources

Drugs & Therapeutics for Hyper Ige Syndrome

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Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
2
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
3 Antifungal Agents Phase 3
4 Antiparasitic Agents Phase 3
5 Antiprotozoal Agents Phase 3
6 Anti-Infective Agents Phase 3
7 14-alpha Demethylase Inhibitors Phase 3
8 Hormones Phase 3
9 Steroid Synthesis Inhibitors Phase 3
10 Cytochrome P-450 Enzyme Inhibitors Phase 3
11 Hormone Antagonists Phase 3
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
13
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
14
Histamine Approved, Investigational Phase 2 51-45-6 774
15
Sodium citrate Approved, Investigational Phase 2 68-04-2
16
Ranitidine Approved Phase 2 66357-35-5, 66357-59-3 3001055
17
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
18 Antibodies Phase 2
19 Immunoglobulins Phase 2
20 Immunologic Factors Phase 2
21 Agglutinins Phase 2
22 Vaccines Phase 2
23 Liposomal amphotericin B Phase 2
24 Anti-Bacterial Agents Phase 2
25 Autoantibodies Phase 2
26 Gastrointestinal Agents Phase 2
27 Neurotransmitter Agents Phase 2
28 Antacids Phase 2
29 Citrate Phase 2
30 Histamine Antagonists Phase 2
31
Histamine Phosphate Phase 2 51-74-1 65513
32 Anti-Ulcer Agents Phase 2
33 Histamine H2 Antagonists Phase 2
34 Bismuth tripotassium dicitrate Phase 2
35
Bismuth Phase 2 7440-69-9 16682734 105143
36 Ranitidine bismuth citrate Phase 2
37
Omalizumab Approved, Investigational Phase 1 242138-07-4
38
Warfarin Approved Phase 1 81-81-2 6691 54678486
39 Anti-Allergic Agents Phase 1
40 Respiratory System Agents Phase 1
41 Anti-Asthmatic Agents Phase 1
42 Pharmaceutical Solutions Phase 1
43 Coagulase
44 Yellow Dock

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Open Label, Limited Access Protocol of Posaconazole in Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 A Phase 2a Study to Evaluate the Safety, Tolerability, and Immunogenicity of One Dose of NDV-3A Vaccine in Patients With STAT3-Mutated Hyper-IgE Syndrome Completed NCT02996448 Phase 2 NDV-3A
3 A Phase 2a Efficacy, Safety, Tolerability, and PK Study of Encochleated Amphotericin B (CAMB/MAT2203) in Patients With Mucocutaneous Candidiasis Who Are Refractory or Intolerant to Standard Non-Intravenous Therapies Recruiting NCT02629419 Phase 2 Amphotericin B
4 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
5 A Double-Blind, Randomized, Placebo-Controlled Cross-Over Study Assessing the Role of Pathogen-Specific IgE and Histamine Release in the Hyper-IgE Syndrome and the Effect of Ranitidine on Laboratory and Clinical Manifestations Terminated NCT00527878 Phase 2 Ranitidine;Placebo
6 Pilot Study of Omalizumab (Xolair) in Hyper IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
7 Diagnostic Efficacy of Virtual Bronchoscopy Completed NCT00001515 Phase 1
8 Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation Terminated NCT02511041 Phase 1 N-Acetylglucosamine (GlcNAc);Uridine
9 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
10 Human Immunity Against Staphylococcus Aureus Skin Infection Completed NCT02262819 S. aureus
11 Genetic Disorders of Mucociliary Clearance Completed NCT00368446
12 Cognitive Function in Leukocyte Disorders Completed NCT00005933
13 Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES) Recruiting NCT00006150
14 Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients Recruiting NCT00605878
15 Oral Microbial and Immunological Characterization of Patients With Immune Dysfunction Recruiting NCT01568697
16 NIH Participation to USIDNET Registry Recruiting NCT01953016
17 Validation Study of mHealth Technology in HIV to Improve Empowerment and Healthcare Utilisation: Research and Innovation to Generate Evidence for Personalised Care (EmERGE) Recruiting NCT02904733
18 Natural History, Genetics, Phenotype and Treatment of Mycobacterial Infections Recruiting NCT00018044
19 Skin Immunity Sample Collection Involving Blisters and Biopsies Not yet recruiting NCT03921515 Early Phase 1

Search NIH Clinical Center for Hyper Ige Syndrome

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Genetic Tests for Hyper Ige Syndrome

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Genetic tests related to Hyper Ige Syndrome:

# Genetic test Affiliating Genes
1 Hyperimmunoglobulin E Syndrome 29 STAT3
2 Hyper-Ige Syndrome 29
Sources

Anatomical Context for Hyper Ige Syndrome

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MalaCards organs/tissues related to Hyper Ige Syndrome:

41
Skin, Lung, Bone, T Cells, B Cells, Bone Marrow, Neutrophil
Sources

Publications for Hyper Ige Syndrome

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Articles related to Hyper Ige Syndrome:

(show top 50) (show all 565)
# Title Authors PMID Year
1
Reduced expression of chemoattractant receptors by polymorphonuclear leukocytes in Hyper IgE Syndrome patients. 9 38
20005258 2010
2
Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients. 9 38
20032313 2010
3
A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene, in hyper-IgE syndrome. 9 38
20149460 2010
4
Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. 9 38
20093388 2010
5
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 9 38
20159255 2010
6
Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China. 9 38
20490271 2010
7
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. 9 38
20004785 2009
8
Hyper-IgE syndrome. 9 38
19717292 2009
9
TH17 cells and regulatory T cells in primary immunodeficiency diseases. 9 38
19410687 2009
10
STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families. 9 38
18841165 2009
11
[Hyper-IgE syndrome with mutation in STAT3 gene - case report and literature review]. 9 38
19648655 2009
12
Hyper IgE syndrome with umbilical hernia. 9 38
20101344 2009
13
Rare association of hyper IgE syndrome with cervical rib and natal teeth. 9 38
20101342 2009
14
Elevated serum immunoglobulin E (IgE): when to suspect hyper-IgE syndrome-A 10-year pediatric tertiary care center experience. 9 38
19331717 2009
15
Insights into the role of STAT3 in human lymphocyte differentiation as revealed by the hyper-IgE syndrome. 9 38
19109129 2009
16
Primary immune deficiencies with aberrant IgE production. 9 38
19084106 2008
17
Reduced memory B cells in patients with hyper IgE syndrome. 9 38
18835223 2008
18
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. 9 38
18978467 2008
19
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. 9 38
18706697 2008
20
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. 9 38
18602572 2008
21
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. 9 38
18591410 2008
22
Histopathologic Findings of Pneumatocele in a Patient with Hyper-IgE syndrome, compatible with cystic adenomatoid malformation. 9 38
18552413 2008
23
Fournier gangrene associated with hyper IgE syndrome (Job syndrome). 9 38
18380833 2008
24
[STAT3 mutation identified in patients with Hyper-IgE syndrome]. 9 38
18334168 2008
25
Hyperimmunoglobulin E syndrome (Job's syndrome). 9 38
19284090 2008
26
STAT3 mutations in the hyper-IgE syndrome. 9 38
17881745 2007
27
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 9 38
17676033 2007
28
[Allergic disease with IgE hypersynthesis. Proposal of a new denomination for an allergic disease confused with immunodeficiency]. 9 38
18297852 2007
29
The hyper IgE syndrome and mutations in TYK2. 9 38
17521577 2007
30
Causes of death in hyper-IgE syndrome. 9 38
17335882 2007
31
[Pneumocystis carinii pneumonia in a patient with hyper-IgE syndrome]. 9 38
17554982 2007
32
Hyper IgE syndrome: review and future directions. 9 38
20477605 2005
33
No indication for a defect in toll-like receptor signaling in patients with hyper-IgE syndrome. 9 38
16133988 2005
34
Production of biologically active recombinant human soluble CD23 and its effect on PBMCs isolated from hyper-IgE blood. 9 38
16083870 2005
35
Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review. 9 38
15621772 2004
36
Cow's milk allergy in a patient with hyper-IgE syndrome. 9 38
15104201 2004
37
[28-Year-Old Patient with Elevated Serum IgE Levels and Multiple Refractory Epidural and Paravertebral Abscesses. Clinical manifestation of a Job's Syndrome?]. 9 38
14551710 2003
38
Selective insufficiency of IFN-gamma secretion in patients with hyper-IgE syndrome. 9 38
12708982 2003
39
Hyper immunoglobulin-E syndrome: a case with chronic ear draining mimicking polypoid otitis media. 9 38
12663115 2003
40
[Anesthetic management for a patient with hyper-IgE syndrome]. 9 38
12649874 2003
41
Detection and characterization of plasma cells in peripheral blood: correlation of IgE+ plasma cell frequency with IgE serum titre. 9 38
12452825 2002
42
[Manifestation of hyper-IgE syndrome in advanced HIV-1 infection]. 9 38
11831060 2002
43
Cytokine and chemokine dysregulation in hyper-IgE syndrome. 9 38
11414745 2001
44
[Loss of an eye due to hyper-IgE syndrome after corneal transplantation]. 9 38
11198964 2001
45
[Hyper-IgE syndrome treated with interferon alpha 2 beta. Report of a case]. 9 38
11558395 2000
46
The relationship between serum IgE and surface levels of FcepsilonR on human leukocytes in various diseases: correlation of expression with FcepsilonRI on basophils but not on monocytes or eosinophils. 9 38
10984372 2000
47
Bone marrow transplantation does not correct the hyper IgE syndrome. 9 38
10871737 2000
48
Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome. 9 38
10657822 2000
49
Increase in granulocyte-macrophage-colony-stimulating factor secretion and the respiratory burst with decreased L-selectin expression in hyper-IgE syndrome patients. 9 38
10507271 1999
50
Pentasomy X and hyper IgE syndrome: co-existence of two distinct genetic disorders. 9 38
10485303 1999
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Variations for Hyper Ige Syndrome

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ClinVar genetic disease variations for Hyper Ige Syndrome:

6 (show top 50) (show all 226)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 STAT3 NM_139276.2(STAT3): c.1853G> A (p.Gly618Asp) single nucleotide variant Pathogenic rs1555563871 17:40475057-40475057 17:42323039-42323039
2 STAT3 NM_139276.2(STAT3): c.1384_1386GTG[1] (p.Val463del) short repeat Pathogenic rs113994138 17:40477056-40477058 17:42325038-42325040
3 STAT3 NM_139276.2(STAT3): c.1144C> T (p.Arg382Trp) single nucleotide variant Pathogenic rs113994135 17:40481661-40481661 17:42329643-42329643
4 STAT3 NM_139276.2(STAT3): c.1145G> A (p.Arg382Gln) single nucleotide variant Pathogenic rs113994136 17:40481660-40481660 17:42329642-42329642
5 STAT3 NM_139276.2(STAT3): c.1268G> A (p.Arg423Gln) single nucleotide variant Pathogenic rs113994137 17:40481441-40481441 17:42329423-42329423
6 STAT3 NM_139276.2(STAT3): c.1145G> T (p.Arg382Leu) single nucleotide variant Pathogenic 17:40481660-40481660 17:42329642-42329642
7 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 17:40474492-40474492 17:42322474-42322474
8 STAT3 NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile) single nucleotide variant Pathogenic rs397514766 17:40481639-40481639 17:42329621-42329621
9 PGM3 NM_015599.3(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 6:83898474-83898474 6:83188755-83188755
10 PGM3 NM_015599.3(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 6:83880059-83880059 6:83170340-83170340
11 PGM3 NM_015599.3(PGM3): c.1016_1018AAG[1] (p.Glu340del) short repeat Pathogenic rs267608259 6:83888401-83888403 6:83178682-83178684
12 STAT3 NM_139276.2(STAT3): c.2147C> T (p.Thr716Met) single nucleotide variant Pathogenic rs869312892 17:40468917-40468917 17:42316899-42316899
13 STAT3 NM_139276.2(STAT3): c.454C> T (p.Arg152Trp) single nucleotide variant Pathogenic rs869312890 17:40491346-40491346 17:42339328-42339328
14 STAT3 NM_139276.2(STAT3): c.1311C> A (p.His437Gln) single nucleotide variant Pathogenic 17:40478188-40478188 17:42326170-42326170
15 STAT3 NM_139276.2(STAT3): c.1234A> T (p.Thr412Ser) single nucleotide variant Pathogenic 17:40481475-40481475 17:42329457-42329457
16 STAT3 NM_139276.2(STAT3): c.1979T> C (p.Met660Thr) single nucleotide variant Pathogenic/Likely pathogenic rs886039434 17:40474422-40474422 17:42322404-42322404
17 STAT3 NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922717 17:40481466-40481466 17:42329448-42329448
18 STAT3 NM_139276.2(STAT3): c.2117T> C (p.Leu706Pro) single nucleotide variant Pathogenic/Likely pathogenic rs1131691476 17:40469227-40469227 17:42317209-42317209
19 STAT3 NM_139276.2(STAT3): c.2134T> C (p.Cys712Arg) single nucleotide variant Likely pathogenic rs193922722 17:40469210-40469210 17:42317192-42317192
20 STAT3 NM_139276.2(STAT3): c.986T> A (p.Met329Lys) single nucleotide variant Likely pathogenic rs1555566820 17:40485754-40485754 17:42333736-42333736
21 STAT3 NM_139276.2(STAT3): c.1976T> A (p.Ile659Asn) single nucleotide variant Likely pathogenic rs1555563717 17:40474425-40474425 17:42322407-42322407
22 STAT3 NM_139276.2(STAT3): c.1772A> T (p.Lys591Met) single nucleotide variant Likely pathogenic rs193922719 17:40475138-40475138 17:42323120-42323120
23 STAT3 NM_139276.2(STAT3): c.1780G> A (p.Glu594Lys) single nucleotide variant Likely pathogenic rs193922720 17:40475130-40475130 17:42323112-42323112
24 STAT3 NM_139276.2(STAT3): c.1970A> G (p.Tyr657Cys) single nucleotide variant Likely pathogenic rs193922721 17:40474431-40474431 17:42322413-42322413
25 STAT3 NM_139276.2(STAT3): c.1003C> T (p.Arg335Trp) single nucleotide variant Likely pathogenic rs193922716 17:40485737-40485737 17:42333719-42333719
26 DOCK8 NM_203447.3(DOCK8): c.5211G> A (p.Glu1737=) single nucleotide variant Conflicting interpretations of pathogenicity rs34098809 9:439376-439376 9:439376-439376
27 DOCK8 NM_203447.3(DOCK8): c.5491-7T> A single nucleotide variant Conflicting interpretations of pathogenicity rs184867151 9:443420-443420 9:443420-443420
28 STAT3 NM_139276.2(STAT3): c.2228G> T (p.Gly743Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151033214 17:40468836-40468836 17:42316818-42316818
29 DOCK8 NM_203447.3(DOCK8): c.3543A> G (p.Val1181=) single nucleotide variant Conflicting interpretations of pathogenicity rs753242273 9:414794-414794 9:414794-414794
30 DOCK8 NM_203447.3(DOCK8): c.3022C> T (p.Arg1008Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs16937932 9:396836-396836 9:396836-396836
31 DOCK8 NM_203447.3(DOCK8): c.3058A> G (p.Ile1020Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151094543 9:396872-396872 9:396872-396872
32 DOCK8 NM_203447.3(DOCK8): c.663C> A (p.Asp221Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139391329 9:312088-312088 9:312088-312088
33 DOCK8 NM_203447.3(DOCK8): c.3606T> C (p.Cys1202=) single nucleotide variant Conflicting interpretations of pathogenicity rs143919622 9:414857-414857 9:414857-414857
34 DOCK8 NM_203447.3(DOCK8): c.3813A> G (p.Lys1271=) single nucleotide variant Conflicting interpretations of pathogenicity rs75411647 9:418180-418180 9:418180-418180
35 DOCK8 NM_203447.3(DOCK8): c.2862A> T (p.Pro954=) single nucleotide variant Conflicting interpretations of pathogenicity rs117610764 9:386414-386414 9:386414-386414
36 DOCK8 NM_203447.3(DOCK8): c.380G> A (p.Arg127His) single nucleotide variant Conflicting interpretations of pathogenicity rs150742426 9:289557-289557 9:289557-289557
37 DOCK8 NM_203447.3(DOCK8): c.452G> A (p.Arg151Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149918318 9:304628-304628 9:304628-304628
38 DOCK8 NM_203447.3(DOCK8): c.6201A> G (p.Glu2067=) single nucleotide variant Conflicting interpretations of pathogenicity rs145573166 9:463649-463649 9:463649-463649
39 DOCK8 NM_203447.3(DOCK8): c.4024-4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs111306749 9:420945-420945 9:420945-420945
40 DOCK8 NM_203447.3(DOCK8): c.5223+4A> G single nucleotide variant Uncertain significance rs117109271 9:439392-439392 9:439392-439392
41 STAT3 NM_139276.2(STAT3): c.*1266G> A single nucleotide variant Uncertain significance rs886052938 17:40466497-40466497 17:42314479-42314479
42 STAT3 NM_139276.2(STAT3): c.*646T> C single nucleotide variant Uncertain significance rs886052939 17:40467117-40467117 17:42315099-42315099
43 STAT3 NM_139276.2(STAT3): c.2216A> G (p.Asn739Ser) single nucleotide variant Uncertain significance rs886052941 17:40468848-40468848 17:42316830-42316830
44 STAT3 NM_139276.2(STAT3): c.-55C> G single nucleotide variant Uncertain significance rs886052944 17:40540328-40540328 17:42388310-42388310
45 STAT3 NM_139276.2(STAT3): c.-195G> C single nucleotide variant Uncertain significance rs780393027 17:40540468-40540468 17:42388450-42388450
46 DOCK8 NM_203447.3(DOCK8): c.1193G> A (p.Arg398Gln) single nucleotide variant Uncertain significance rs147287319 9:334292-334292 9:334292-334292
47 DOCK8 NM_203447.3(DOCK8): c.277G> T (p.Val93Leu) single nucleotide variant Uncertain significance rs375686155 9:286581-286581 9:286581-286581
48 DOCK8 NM_203447.3(DOCK8): c.*845T> C single nucleotide variant Uncertain significance rs10157 9:465064-465064 9:465064-465064
49 DOCK8 NM_203447.3(DOCK8): c.*1031G> A single nucleotide variant Uncertain significance rs149002313 9:465250-465250 9:465250-465250
50 DOCK8 NM_203447.3(DOCK8): c.1623C> G (p.His541Gln) single nucleotide variant Uncertain significance rs200201944 9:340265-340265 9:340265-340265
Sources

Expression for Hyper Ige Syndrome

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Search GEO for disease gene expression data for Hyper Ige Syndrome.
Sources

Pathways for Hyper Ige Syndrome

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Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.85 TYK2 TLR4 TLR2 STAT3 IL4R IL4
2
PEDF Induced Signaling 64
Show member pathways
 13.51 TYK2 TLR4 STAT3 IL4R IL4 IFNG
3
Akt Signaling 64
Show member pathways
 13.25 TLR4 TLR2 STAT3 IL4R IL4
4
Cytokine Signaling in Immune system 66
Show member pathways
 13.21 TYK2 STAT3 IL4R IL4 IGHE IFNG
5
IL-2 Pathway 64
Show member pathways
 13.08 TLR4 TLR2 STAT3 IL4R IL4 IFNG
6
Toll-like Receptor Signaling Pathway 37 1
Show member pathways
 12.94 TYK2 TLR4 TLR2 IFNG
7
PI3K-Akt signaling pathway 37
Show member pathways
 12.86 TYK2 TLR4 TLR2 IL4R IL4
8
Pathways in cancer 37
12.7 STAT3 IL4R IL4 IFNG
9
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 65
Show member pathways
 12.64 TYK2 STAT3 IL4R IL4
10
Immune response NFAT in immune response 22
Show member pathways
 12.51 IL4R IL4 IGHE IFNG
11
NF-kappaB Signaling 4
12.35 TYK2 TLR2 STAT3 IL4 IFNG
12
CNTF Signaling 64
Show member pathways
 12.24 TYK2 TLR4 TLR2 STAT3
13
IL-17 Family Signaling Pathways 65
Show member pathways
 12.23 TLR2 STAT3 IL4 IFNG
14
Type I Interferon Signaling Pathways 65
Show member pathways
 12.17 TYK2 STAT3 IFNG
15
Proteoglycans in cancer 37
12.17 TLR4 TLR2 STAT3
16
JAK-STAT signaling pathway (KEGG) 37
Show member pathways
 12.13 TYK2 STAT3 IL4R IL4 IFNG
17
Tuberculosis 37
12.1 TLR4 TLR2 IFNG
18
Necroptosis 37
Show member pathways
 12.1 TYK2 TLR4 STAT3 IFNG
19
Development IGF-1 receptor signaling 22
Show member pathways
 12.1 TYK2 STAT3 IL4R IL4 IGHE
20
Colorectal Cancer Metastasis 64
12.07 TLR4 TLR2 STAT3 IFNG
21
Bacterial infections in CF airways 22
Show member pathways
 12.05 TLR4 TLR2 IL4 IFNG
22
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.96 STAT3 IL4R IL4 IFNG
23
MAPK Pathway 71
Show member pathways
 11.93 TLR4 TLR2 STAT3
24
Spinal Cord Injury 1
11.91 TLR4 IL4 IFNG
25
Microglia Activation During Neuroinflammation: Overview 65
Show member pathways
 11.88 TLR4 TLR2 IL4 IFNG
26
HIF-1 signaling pathway 37
11.86 TLR4 STAT3 IFNG
27
Amoebiasis 37
11.82 TLR4 TLR2 IFNG
28
Rheumatoid arthritis 37
11.78 TLR4 TLR2 IFNG
29
Th1 Differentiation Pathway 65
Show member pathways
 11.77 TYK2 TLR4 TLR2 STAT3 IFNG
30
IL12-mediated signaling events 1
Show member pathways
 11.76 TYK2 STAT3 IL4 IFNG
31
Toxoplasmosis 37
Show member pathways
 11.71 TYK2 TLR4 TLR2 STAT3 IL4 IFNG
32
Th17 cell differentiation 37
Show member pathways
 11.71 TYK2 TLR4 TLR2 STAT3 IL4R IL4
33
Jak-Stat Signaling Pathway (sino) 67
11.7 TYK2 STAT3 IL4R IFNG
34
Interleukin-4 and 13 signaling 66
11.61 TYK2 STAT3 IL4R IL4 IGHE
35
IL4-mediated signaling events 1
11.59 IL4R IL4 IGHE
36
Malaria 37
11.46 TLR4 TLR2 IFNG
37
Interleukin-10 signaling 66
11.45 TYK2 STAT3 IL4
38
MSP-RON Signaling 64
11.43 TLR4 TLR2 IFNG
39
Th2 Differentiation Pathway 65
11.41 IL4R IL4 IFNG
40
Jak/STAT Signaling Pathway Intracellular Regulation 65
11.31 TYK2 STAT3
41
Type III Interferon Signaling Pathways 65
Show member pathways
 11.29 TYK2 STAT3
42
IL-10 Pathway 64
11.24 TYK2 TLR4 STAT3
43
Development and heterogeneity of the ILC family 1
11.2 IL4 IFNG
44
Inflammatory Response Pathway 1
11.2 IL4R IL4 IFNG
45
Cytokines and Inflammatory Response 1
11.15 IL4 IFNG
46
IL12 signaling mediated by STAT4 1
11.13 STAT3 IFNG
47
Immune response_IL-12 signaling pathway 22
Show member pathways
 11.13 TYK2 STAT3 IFNG
48
OX40 Pathway 64
11.1 IL4 IFNG
49
IL1 and megakaryocytes in obesity 1
11.08 TLR2 IFNG
50
Immune response_Oncostatin M signaling via JAK-Stat in human cells 22
10.95 TYK2 STAT3
Sources

GO Terms for Hyper Ige Syndrome

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Cellular components related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intrinsic component of plasma membrane GO:0031226 8.62 TLR4 TLR2

Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.72 TLR4 TLR2 STAT3 IL4 IFNG
2 positive regulation of nitric oxide biosynthetic process GO:0045429 9.62 TLR4 IFNG
3 positive regulation of B cell proliferation GO:0030890 9.62 TLR4 IL4
4 toll-like receptor signaling pathway GO:0002224 9.61 TLR4 TLR2
5 lipopolysaccharide-mediated signaling pathway GO:0031663 9.61 TLR4 TLR2
6 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.6 TLR4 TLR2
7 positive regulation of interleukin-8 production GO:0032757 9.59 TLR4 TLR2
8 positive regulation of interferon-beta production GO:0032728 9.58 TLR4 TLR2
9 positive regulation of interleukin-10 production GO:0032733 9.58 TLR4 TLR2
10 negative regulation of osteoclast differentiation GO:0045671 9.57 TLR4 IL4
11 positive regulation of chemokine production GO:0032722 9.56 TLR4 TLR2
12 positive regulation of macrophage activation GO:0043032 9.55 TLR4 IL4R
13 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.54 TLR4 TLR2
14 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.54 STAT3 IL4 IFNG
15 negative regulation of interleukin-17 production GO:0032700 9.51 TLR4 IFNG
16 I-kappaB phosphorylation GO:0007252 9.49 TLR4 TLR2
17 interleukin-27-mediated signaling pathway GO:0070106 9.48 TYK2 STAT3
18 cellular response to lipoteichoic acid GO:0071223 9.46 TLR4 TLR2
19 interleukin-23-mediated signaling pathway GO:0038155 9.43 TYK2 STAT3
20 positive regulation of MHC class II biosynthetic process GO:0045348 9.4 TLR4 IL4
21 cytokine-mediated signaling pathway GO:0019221 9.35 TYK2 STAT3 IL4R IL4 IGHE
22 positive regulation of interleukin-12 production GO:0032735 9.33 TLR4 TLR2 IFNG
23 positive regulation of cellular response to macrophage colony-stimulating factor stimulus GO:1903974 9.26 TLR4 TLR2
24 regulation of cytokine secretion GO:0050707 9.22 TLR2
25 immune response GO:0006955 9.1 TLR4 TLR2 IL4R IL4 IGHE IFNG

Molecular functions related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipopolysaccharide binding GO:0001530 8.96 TLR4 TLR2
2 lipopolysaccharide receptor activity GO:0001875 8.62 TLR4 TLR2
Sources

Sources for Hyper Ige Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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